Thank you for your responses! They also detected the baby had a heart defect ASVD & will eventually require surgery. Per the doctors ASVD is typically found in babies with Down syndrome. When I had my girls this test was not around so I'm not well versed about it. I guess we will have to wait upon birth to find out! I wish you all the best!

Thank you for your responses! They also detected the baby had a heart defect ...

Posted
04/04/2017

Thank you for your responses! They also detected the baby had a heart defect ASVD & will eventually require surgery. Per the doctors ASVD is typically found in babies with Down syndrome. When I had my girls this test was not around so I'm not well versed about it. I guess we will have to wait upon birth to find out! I wish you all the best!

Combined with avsd the nipt is very, very accurate. That said, even though surgery is so scary many of our littles have been through it!

Agree that the test results, combined with AVSD, indicate the baby will likely be born with Down syndrome. I know how very scary the thought of all of it is; however, there is a high degree of success with repairing that heart defect in our kiddos with Ds, particularly because their heart tissue is somehow easier to work with than a typical child's. Our heart surgeon actually told us "with that defect, you actually WANT your child to have Down syndrome for the best outcome." While our kiddos are at higher risk for things like this, they are also blessed by statistically better outcomes.

Add me to the count of false positives for Trisomy 21 for the nipt test. I received an 87% chance of a positive outcome from the nipt and decided to do the amnio at 16 weeks. I was offered very little hope by my genetic counselor and obgyn of my baby not having Trisomy 21. All I kept hearing from everyone was the extremely high accuracy of this test. My amnio fish and full panel came back with a normal karyotype and only 2 chromosomes for 21 which is normal. These results shocked everyone. I was told that the false positive could have been caused by placenta mocaism or a malfunction of the test with my DNA, since the nipt included both maternal and fetal DNA from the placenta. I have been on such an emotional roller coaster ride this pregnancy.

Add me to the count of false positives for Trisomy 21 for the nipt test. I re...

Posted
04/04/2017

Add me to the count of false positives for Trisomy 21 for the nipt test. I received an 87% chance of a positive outcome from the nipt and decided to do the amnio at 16 weeks. I was offered very little hope by my genetic counselor and obgyn of my baby not having Trisomy 21. All I kept hearing from everyone was the extremely high accuracy of this test. My amnio fish and full panel came back with a normal karyotype and only 2 chromosomes for 21 which is normal. These results shocked everyone. I was told that the false positive could have been caused by placenta mocaism or a malfunction of the test with my DNA, since the nipt included both maternal and fetal DNA from the placenta. I have been on such an emotional roller coaster ride this pregnancy.

But, apparently your result wasn't just positive for T21 (Monosomy X, too?) and no one had seen results quite like yours before? It doesn't sound like a straightforward result just for T21 and it does not sound like their were any markers, correct?

There is a reason nipts are still only considered a screen and that amnio is needed for a diagnostic result. I am glad you were able to get the amnio and finally have answers. Many of us here understand the emotional roller coaster you've been experiencing--it's horrible--hopefully you can relax now and enjoy the rest of your pregnancy!

But, apparently your result wasn't just positive for T21 (Monosomy X, too?) and no one had seen results quite like yours before? It doesn't sound like a straightforward result just for T21 and it does not sound like their were any markers, correct?

There is a reason nipts are still only considered a screen and that amnio is needed for a diagnostic result. I am glad you were able to get the amnio and finally have answers. Many of us here understand the emotional roller coaster you've been experiencing--it's horrible--hopefully you can relax now and enjoy the rest of your pregnancy!

The only ultrasound I've had so far was for the NT scan and it was normal at 1.7 at almost 13 weeks. I go for the 20 week scan this Friday. Hoping everything is good. I'm also still waiting for microarray results on amnio. It's been almost 3 weeks. The geneticist decided to order this because she was still in such shock from my NIPT and amnio results. You are right my case is a bit different since I had a positive for two aneuploids which is never really seen, both Trisomy 21 and Monosomy X. When I had received this diagnosis I did so much research to try and find cases like mine and I actually did find a scientific article published on double aneuploid nipt results which explains reasons behind it and outcomes. It was this article that gave me the little bit of hope that I hung on to for the weeks following the nipt results.

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